Variant: rs1060500122

present in Gene: PTEN present in Chromosome: 10 Position on Chromosome: 87933204 Alleles of this Variant: C/T

rs1060500122 in PTEN gene and Neoplastic Syndromes, Hereditary PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.